CDKL5 Variant
Variant ID: cm428
Systematic name: c.530A>G
Protein name: p.Tyr177Cys
Alternate name(s):
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: variant of uncertain significance
dbSNP ID:
First reference: Christianto, A. Katayama, S. Kameshita, I. Inazu, T. (2016) A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome . Clin Chim Acta 459:132-136. Pubmed ID: 27265524
Comments:
Variant last updated on: 2019-10-10 10:59:12
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.530A>G | p.Tyr177Cys | Not Rett syndrome | Female | 27265524, Christianto, A. et al (2016) | cp584 |
Displaying a total number of 1 proband entries matching this variant.